{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA043820",
  "communityStandardTitle": [
    "NM_004612.4(TGFBR1):c.1065A>C (p.Ala355=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=614980[alleleid]",
        "alleleId": 614980,
        "preferredName": "NM_004612.4(TGFBR1):c.1065A>C (p.Ala355=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/626775",
        "RCV": [
          "RCV000770356",
          "RCV001166596",
          "RCV003999939"
        ],
        "variationId": 626775
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/9-101907105-A-C",
        "id": "9-101907105-A-C",
        "variant": "9:101907105 A / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.101907105A>C?assembly=hg19",
        "id": "chr9:g.101907105A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.99144823A>C?assembly=hg38",
        "id": "chr9:g.99144823A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/758280185",
        "rs": 758280185
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-101907105-A-C?dataset=gnomad_r2_1",
        "id": "9-101907105-A-C",
        "variant": "9:101907105 A / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-99144823-A-C?dataset=gnomad_r3",
        "id": "9-99144823-A-C",
        "variant": "9:99144823 A / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-99144823-A-C?dataset=gnomad_r4",
        "id": "9-99144823-A-C",
        "variant": "9:99144823 A / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 99144823,
          "referenceAllele": "A",
          "start": 99144822
        }
      ],
      "hgvs": [
        "NC_000009.12:g.99144823A>C",
        "CM000671.2:g.99144823A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 101907105,
          "referenceAllele": "A",
          "start": 101907104
        }
      ],
      "hgvs": [
        "NC_000009.11:g.101907105A>C",
        "CM000671.1:g.101907105A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 100946926,
          "referenceAllele": "A",
          "start": 100946925
        }
      ],
      "hgvs": [
        "NC_000009.10:g.100946926A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 44694,
          "referenceAllele": "A",
          "start": 44693
        }
      ],
      "hgvs": [
        "NG_007461.1:g.44694A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000587"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1037,
          "referenceAllele": "A",
          "start": 1036
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000547314.6:c.858A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000449934.2:p.Ala286="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914256"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1017,
          "referenceAllele": "A",
          "start": 1016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000552573.7:c.870A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000447182.3:p.Ala290="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914261"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 878,
          "referenceAllele": "A",
          "start": 877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000548365.6:c.639A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448518.2:p.Ala213="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905821"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 965,
          "referenceAllele": "A",
          "start": 964
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000549021.6:c.627A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000449028.2:p.Ala209="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905825"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1069,
          "referenceAllele": "A",
          "start": 1068
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000698941.1:c.870A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514048.1:p.Ala290="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909886"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1073,
          "referenceAllele": "A",
          "start": 1072
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000698942.1:c.*861A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514049.1:n.*861A>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909887"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1158,
          "referenceAllele": "A",
          "start": 1157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000374994.9:c.1065A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364133.4:p.Ala355="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751537",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374994.9:c.1065A>C"
          },
          "RefSeq": {
            "hgvs": "NM_004612.4:c.1065A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364133.4:p.Ala355="
          },
          "RefSeq": {
            "hgvs": "NP_004603.1:p.Ala355="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 929,
          "referenceAllele": "A",
          "start": 928
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000374990.6:c.834A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364129.2:p.Ala278="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247114"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1182,
          "referenceAllele": "A",
          "start": 1181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000374994.8:c.1065A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364133.4:p.Ala355="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247264"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1133,
          "referenceAllele": "A",
          "start": 1132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000549766.5:c.1077A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446685.1:p.Ala359="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS367656"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1055,
          "referenceAllele": "A",
          "start": 1054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000550253.1:c.858A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450052.1:p.Ala286="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247311"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1133,
          "referenceAllele": "A",
          "start": 1132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "ENST00000552516.5:c.1077A>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000447297.1:p.Ala359="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247220"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825744689",
      "coordinates": [
        {
          "allele": "C",
          "end": 910,
          "referenceAllele": "A",
          "start": 909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "NM_001130916.1:c.834A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124388.1:p.Ala278="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012116"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825744689",
      "coordinates": [
        {
          "allele": "C",
          "end": 951,
          "referenceAllele": "A",
          "start": 950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "NM_001130916.2:c.834A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124388.1:p.Ala278="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012117"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826917080",
      "coordinates": [
        {
          "allele": "C",
          "end": 1194,
          "referenceAllele": "A",
          "start": 1193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "NM_001306210.1:c.1077A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001293139.1:p.Ala359="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026033"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829554764",
      "coordinates": [
        {
          "allele": "C",
          "end": 1141,
          "referenceAllele": "A",
          "start": 1140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "NM_004612.2:c.1065A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004603.1:p.Ala355="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029766"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829554764",
      "coordinates": [
        {
          "allele": "C",
          "end": 1182,
          "referenceAllele": "A",
          "start": 1181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "NM_004612.3:c.1065A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004603.1:p.Ala355="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029767"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1109,
          "referenceAllele": "A",
          "start": 1108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "XM_011518948.1:c.870A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517250.1:p.Ala290="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086122"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1037,
          "referenceAllele": "A",
          "start": 1036
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "XM_011518949.1:c.858A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517251.1:p.Ala286="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086123"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 960,
          "referenceAllele": "A",
          "start": 959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "XM_011518950.1:c.627A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517252.1:p.Ala209="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086124"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1109,
          "referenceAllele": "A",
          "start": 1108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "XM_011518948.2:c.870A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517250.1:p.Ala290="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545149"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1037,
          "referenceAllele": "A",
          "start": 1036
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "XM_011518949.2:c.858A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517251.1:p.Ala286="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545150"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4139,
          "referenceAllele": "A",
          "start": 4138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "XM_011518950.2:c.627A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517252.1:p.Ala209="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545151"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1072,
          "referenceAllele": "A",
          "start": 1071
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "XM_017015063.1:c.870A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870552.1:p.Ala290="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567899"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4364,
          "referenceAllele": "A",
          "start": 4363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "XM_024447658.1:c.858A>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303426.1:p.Ala286="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581239"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829554764",
      "coordinates": [
        {
          "allele": "C",
          "end": 1158,
          "referenceAllele": "A",
          "start": 1157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "NM_004612.4:c.1065A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_004603.1:p.Ala355="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666569",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374994.9:c.1065A>C"
          },
          "RefSeq": {
            "hgvs": "NM_004612.4:c.1065A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364133.4:p.Ala355="
          },
          "RefSeq": {
            "hgvs": "NP_004603.1:p.Ala355="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825744689",
      "coordinates": [
        {
          "allele": "C",
          "end": 927,
          "referenceAllele": "A",
          "start": 926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "NM_001130916.3:c.834A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124388.1:p.Ala278="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677158"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826917080",
      "coordinates": [
        {
          "allele": "C",
          "end": 1170,
          "referenceAllele": "A",
          "start": 1169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011772",
      "geneNCBI_id": 7046,
      "geneSymbol": "TGFBR1",
      "hgvs": [
        "NM_001306210.2:c.1077A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001293139.1:p.Ala359="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683870"
    }
  ],
  "type": "nucleotide"
}